Trends in the incidence of fetal macrosomia and its phenotypes in the United States, 1971–2017

Archives of Gynecology and Obstetrics - Studies have reported a surge in the prevalence of obesity among various demographic groups including pregnant women in the U.S. Given the association...     

Adenylate cyclase activator forskolin alleviates intracerebroventricular propionic acid-induced mitochondrial dysfunction of autistic rats

Neuronal mitochondrial dysfunction increases inflammatory mediators and leads to free radical generation and anti-oxidant enzymatic alterations,which are major neuropathological hallmarks responsible for autism.Mitochondrial dysfunction in autism is associated with decreased ATP levels due to reduced levels of cyclic adenosine monophosphate.Rat models of autism were established by intracerebroventricular injection of propionic acid.These rat models had memory dysfunction,decreased muscle coordination and gait imbalance.Biochemical estimation of propionic acid-treated rats showed changes in enzyme activity in neuronal mitochondrial electron transport chain complexes and increases in pro-inflammatory cytokines,oxidative stress and lipid biomarkers.Oral administration of 10,20 and 30 mg/kg adenylate cyclase activator forskolin for 15 days reversed these changes in a dose-dependent manner.These findings suggest that forskolin can alleviate neuronal mitochondrial dysfunction and improve neurological symptoms of rats with autism.This study was approved by the RITS/IAEC,SIRSA,HARYANA on March 3,2014(approval No.RITS/IAEC/2014/03/03).     

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.     

Overuse of organ biopsies in immunoglobulin light chain amyloidosis (AL): the consequence of failure of early recognition

Introduction: The diagnosis of amyloidosis requires histological confirmation of Congo-red (CR) deposits. The tissue source is preferably fat aspiration and/or bone marrow (BM) biopsy, but at times organ biopsy is required.

Methods: We studied 612 patients with systemic immunoglobulin light chain amyloidosis to characterise the tissues used to establish the diagnosis.

Results: The median number of tissue samples was 3. About 95% of BM biopsies were stained for CR, while 79% of patients had fat aspiration CR-stained. CR stain sensitivity was 69% in BM, 75% in fat aspiration and 89% for both sources combined. In comparison, CR sensitivity was 97–100% for heart, renal and liver biopsies. About 42% of patients with renal involvement, 21% of patients with liver involvement and 13% of patients with heart involvement underwent organ biopsy, when a less invasive biopsy would have established the diagnosis. Predictors for the requirement for organ biopsy were male sex, limited organ involvement and lack of fat aspiration.

Discussion: Fat aspiration is underutilised for histologic confirmation of amyloidosis. A high rate of organ biopsies represents a failure to recognise the disease. Early awareness of amyloidosis in patients with organ dysfunction may lead to more judicious use of organ biopsies in this disease.

• Key messages

• Fat pad aspiration is underutilised to establish the diagnosis of amyloidosis.

• Bone marrow and fat pad aspiration obviates the need for invasive biopsies.

• The excessive use of organ biopsy in AL amyloidosis reflects failure to recognise the disease early in its course.

     

Acute lower respiratory tract infection due to Chlamydia species in children under five years of age

BACKGROUND: The contribution of Chlamydia spp in respiratory tract infections in paediatric population from India has not been studied in detail. METHODS: Sixty children under five years of age who were admitted with acute lower respiratory tract infection during a one year period were investigated for Chlamydial aetiology of respiratory infection. Diagnosis was based on antigen detection by direct immunofluorescence (DIF) in throat swab along with anti-Chlamydial immunoglobulin G (IgG) antibody demonstration by solid phase enzyme immunoassay (EIA). RESULTS: Chlamydia spp antigen was detected in seven (11.6%) cases, C. pneumoniae in six (10%) and C. trachoniatis in one (1.6%). Chlamydia spp IgG antibody in serum was demonstrated in 24 (40%) cases, of which C. pneumoniae IgG was denconstrated in 18 (30%) cases. Taking the criteria of antigen detection (n=7) and high IgG antibody titre of > or = 1:512 (n=5) for a positive case, 12 (20%) children were found to be suffering from recent Chlamydial infection. CONCLUSION: Chlamydia spp plays a significant role in respiratory tract infections in Indian paediatric population. Diagnostic procedure like antigen detection in throat swab is rapid, less cumbersome and feasible and should be more widely used along with antibody demonstration to determine the aetiological agent early in the course of illness.     

Mechanism of olfactory deficit in neurotrauma and its related affective distress: A narrative review

Traumatic brain injury (TBI) is among the leading causes of death and disability all over the globe. TBI is also commonly associated with clinical sequelae of posttraumatic depression, and reports of other subsequent affective distress are common. Similarly, posttraumatic changes in chemoreceptive sensory functions, primarily due to coup-contrecoup injury induced shearing of the olfactory nerve fibers, leading to anosmia and ageusia are also well documented in the literature. However, the current literature is limited in addressing the intersections between said variables. The aim of this study was to provide a focused narrative review of the literature, to address these intersections found in clinical sequelae of TBI. As chemoreceptive sensory deficits are also linked to significant affective distress of their own, this review addresses the bidirectionality between sensory deficit and affective distress. Prevalence, demographics, mechanisms, and clinical implications are presented. Previous research is presented and discussed, in an effort to highlight the importance of consideration for all factors in TBI patient care and future research.